Allele Registry

Canonical Allele Identifier: PA097777

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV003504543

ClinVar Variation:

2734908

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ala17Val	CA138936787 NM_138694.3:c.50C>T